A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894312



Internal ID4406012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27578839..27583520hg38UCSC Ensembl
Innerchr1:27578854..27583506hg38UCSC Ensembl
Outerchr1:27578825..27583535hg38UCSC Ensembl
chr1:27905350..27910031hg19UCSC Ensembl
Innerchr1:27905365..27910017hg19UCSC Ensembl
Outerchr1:27905336..27910046hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384682
hg194682
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585560
Supporting Variants
SamplesHG03922
Known GenesAHDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer